Refractory cytopenia of childhood, GATA2 deficiency related . Aspirate

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Refractory cytopenia of childhood, GATA2 deficiency related . Aspirate

$Refractory cytopenia of childhood, GATA2 deficiency related . Aspirate$

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Author: Katherine Calvo, MD, PhD
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Myelodysplastic Syndromes (MDS) > Refractory cytopenia of childhood (provisional)
Published Date: 02/21/2016

15 y/o male with pancytopenia, severe monocytopenia, B-lymphopenia and NK-lymphopenia.

History of disseminated MAC and warts. The bone marrow shows a hypocellular

marrow for age with atypical megakaryocytes and no increase in blasts. Cytogenetic analysis of the marrow showed an abnormal karyotype involving monosomy 7. DNA sequencing revealed a germline mutation in GATA2. Diagnosis: Refractory cytopenia of childhood, GATA2 deficiency related.

Aspriate smear with atypical megakaryocyte with separated nuclear lobes

(RCC, GATA2 deficiency related).

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